Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis
2018 · Hereditas · 75 citations
https://doi.org/10.1186/s41065-018-0069-1
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Na Ma
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Na Ma is an academic researcher from First People's Hospital of Foshan. The author has contributed to research in topics: Prenatal Screening and Diagnostics & Genomic variations and chromosomal abnormalities & Genetic Syndromes and Imprinting. The author has an h-index of 18, co-authored 65 publications.
ORCID: 0000-0003-0089-7789Papers by this author
worksIntegrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism
2021 · BMC Medical Genomics · 75 citations
https://doi.org/10.1186/s12920-021-00899-x
Soluble POSTN is a novel biomarker complementing CA153 and CEA for breast cancer diagnosis and metastasis prediction
2022 · BMC Cancer · 43 citations
https://doi.org/10.1186/s12885-022-09864-y
Clinical and molecular characterization of 12 prenatal cases of Cri‐du‐chat syndrome
2020 · Molecular Genetics & Genomic Medicine · 11 citations
https://doi.org/10.1002/mgg3.1312
Two novel TMEM67 variations in a Chinese family with recurrent pregnancy loss: a case report
2024 · BMC Medical Genomics · 3 citations
https://doi.org/10.1186/s12920-024-01902-x
[Genetic analysis of a pedigree with MECP duplication syndrome].
2020 · PubMed · 2 citations
https://doi.org/10.3760/cma.j.cn511374-20191014-00525
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